PittsburghV1, Main, Exploration, bibRecord, 003558

DNA Copy Number Variants of Known Glaucoma Genes in Relation to Primary Open-Angle Glaucoma

Identifieur interne : 003558 ( Main/Exploration ); précédent : 003557; suivant : 003559

DNA Copy Number Variants of Known Glaucoma Genes in Relation to Primary Open-Angle Glaucoma

Auteurs : Yutao Liu [États-Unis] ; Melanie E. Garrett [États-Unis] ; Brian L. Yaspan [États-Unis] ; Jessica Cooke Bailey [États-Unis] ; Stephanie J. Loomis [États-Unis] ; Murray Brilliant [États-Unis] ; Donald L. Budenz [États-Unis] ; William G. Christen [États-Unis] ; John H. Fingert [États-Unis] ; Douglas Gaasterland [États-Unis] ; Terry Gaasterland [États-Unis] ; Jae H. Kang [États-Unis] ; Richard K. Lee [États-Unis] ; Paul Lichter [États-Unis] ; Sayoko E. Moroi [États-Unis] ; Anthony Realini [États-Unis] ; Julia E. Richards [États-Unis] ; Joel S. Schuman [États-Unis] ; William K. Scott [États-Unis] ; Kuldev Singh [États-Unis] ; Arthur J. Sit [États-Unis] ; Douglas Vollrath [États-Unis] ; Robert Weinreb [États-Unis] ; Gadi Wollstein [États-Unis] ; Donald J. Zack [États-Unis] ; Kang Zhang [États-Unis] ; Margaret A. Pericak-Vance [États-Unis] ; Jonathan L. Haines [États-Unis] ; Louis R. Pasquale [États-Unis] ; Janey L. Wiggs [États-Unis] ; R. Rand Allingham [États-Unis] ; Allison E. Ashley-Koch [États-Unis] ; Michael A. Hauser [États-Unis]

Source :

Investigative Ophthalmology & Visual Science [ 0146-0404 ] ; 2014.

RBID : PMC:4271633

Descripteurs français

English descriptors

KwdEn :
- Aged, Aged, 80 and over, Case-Control Studies, DNA Copy Number Variations, Eye Proteins (genetics), Female, Genetic Predisposition to Disease, Genotype, Glaucoma, Open-Angle (genetics), Humans, Male, Middle Aged.
MESH :
- chemical , genetics : Eye Proteins.
- genetics : Glaucoma, Open-Angle.
- Aged, Aged, 80 and over, Case-Control Studies, DNA Copy Number Variations, Female, Genetic Predisposition to Disease, Genotype, Humans, Male, Middle Aged.

Abstract

Purpose.

We examined the role of DNA copy number variants (CNVs) of known glaucoma genes in relation to primary open angle glaucoma (POAG).

Methods.

Our study included DNA samples from two studies (NEIGHBOR and GLAUGEN). All the samples were genotyped with the Illumina Human660W_Quad_v1 BeadChip. After removing non–blood-derived and amplified DNA samples, we applied quality control steps based on the mean Log R Ratio and the mean B allele frequency. Subsequently, data from 3057 DNA samples (1599 cases and 1458 controls) were analyzed with PennCNV software. We defined CNVs as those ≥5 kilobases (kb) in size and interrogated by ≥5 consecutive probes. We further limited our investigation to CNVs in known POAG-related genes, including CDKN2B-AS1, TMCO1, SIX1/SIX6, CAV1/CAV2, the LRP12-ZFPM2 region, GAS7, ATOH7, FNDC3B, CYP1B1, MYOC, OPTN, WDR36, SRBD1, TBK1, and GALC.

Results.

Genomic duplications of CDKN2B-AS1 and TMCO1 were each found in a single case. Two cases carried duplications in the GAS7 region. Genomic deletions of SIX6 and ATOH7 were each identified in one case. One case carried a TBK1 deletion and another case carried a TBK1 duplication. No controls had duplications or deletions in these six genes. A single control had a duplication in the MYOC region. Deletions of GALC were observed in five cases and two controls.

Conclusions.

The CNV analysis of a large set of cases and controls revealed the presence of rare CNVs in known POAG susceptibility genes. Our data suggest that these rare CNVs may contribute to POAG pathogenesis and merit functional evaluation.

Url:

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4271633

DOI: 10.1167/iovs.14-15712
PubMed: 25414181
PubMed Central: 4271633

Affiliations:

Le document en format XML

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<author><name sortKey="Moroi, Sayoko E" sort="Moroi, Sayoko E" uniqKey="Moroi S" first="Sayoko E." last="Moroi">Sayoko E. Moroi</name>
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<author><name sortKey="Realini, Anthony" sort="Realini, Anthony" uniqKey="Realini A" first="Anthony" last="Realini">Anthony Realini</name>
<affiliation wicri:level="2"><nlm:aff id="aff15">Department of Ophthalmology, West Virginia University Eye Institute, Morgantown, West Virginia, United States;</nlm:aff>
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<wicri:regionArea>Department of Ophthalmology, West Virginia University Eye Institute, Morgantown, West Virginia</wicri:regionArea>
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<author><name sortKey="Richards, Julia E" sort="Richards, Julia E" uniqKey="Richards J" first="Julia E." last="Richards">Julia E. Richards</name>
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<wicri:regionArea>Department of Ophthalmology, Stanford University, Palo Alto, California</wicri:regionArea>
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<author><name sortKey="Sit, Arthur J" sort="Sit, Arthur J" uniqKey="Sit A" first="Arthur J." last="Sit">Arthur J. Sit</name>
<affiliation wicri:level="2"><nlm:aff id="aff19">Department of Ophthalmology, Mayo Clinic, Rochester, Minnesota, United States</nlm:aff>
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<wicri:regionArea>Department of Ophthalmology, Mayo Clinic, Rochester, Minnesota</wicri:regionArea>
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</author>
<author><name sortKey="Vollrath, Douglas" sort="Vollrath, Douglas" uniqKey="Vollrath D" first="Douglas" last="Vollrath">Douglas Vollrath</name>
<affiliation wicri:level="2"><nlm:aff id="aff18">Department of Ophthalmology, Stanford University, Palo Alto, California, United States</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Ophthalmology, Stanford University, Palo Alto, California</wicri:regionArea>
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<author><name sortKey="Weinreb, Robert" sort="Weinreb, Robert" uniqKey="Weinreb R" first="Robert" last="Weinreb">Robert Weinreb</name>
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<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Ophthalmology and Hamilton Glaucoma Center, University of California, San Diego, California</wicri:regionArea>
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</placeName>
</affiliation>
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<author><name sortKey="Wollstein, Gadi" sort="Wollstein, Gadi" uniqKey="Wollstein G" first="Gadi" last="Wollstein">Gadi Wollstein</name>
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<wicri:regionArea>Department of Ophthalmology, UPMC Eye Center, University of Pittsburgh, Pittsburgh, Pennsylvania</wicri:regionArea>
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<author><name sortKey="Zack, Donald J" sort="Zack, Donald J" uniqKey="Zack D" first="Donald J." last="Zack">Donald J. Zack</name>
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<wicri:regionArea>Wilmer Eye Institute, Johns Hopkins University Hospital, Baltimore, Maryland</wicri:regionArea>
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<author><name sortKey="Zhang, Kang" sort="Zhang, Kang" uniqKey="Zhang K" first="Kang" last="Zhang">Kang Zhang</name>
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<wicri:regionArea>Department of Ophthalmology and Hamilton Glaucoma Center, University of California, San Diego, California</wicri:regionArea>
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</affiliation>
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<author><name sortKey="Pericak Vance, Margaret A" sort="Pericak Vance, Margaret A" uniqKey="Pericak Vance M" first="Margaret A." last="Pericak-Vance">Margaret A. Pericak-Vance</name>
<affiliation wicri:level="2"><nlm:aff id="aff17">Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, Florida, United States</nlm:aff>
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<placeName><region type="state">Floride</region>
</placeName>
</affiliation>
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<author><name sortKey="Haines, Jonathan L" sort="Haines, Jonathan L" uniqKey="Haines J" first="Jonathan L." last="Haines">Jonathan L. Haines</name>
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<wicri:regionArea>Department of Epidemiology and Biostatistics, Case Western Reserve University, Cleveland, Ohio</wicri:regionArea>
<placeName><region type="state">Ohio</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Pasquale, Louis R" sort="Pasquale, Louis R" uniqKey="Pasquale L" first="Louis R." last="Pasquale">Louis R. Pasquale</name>
<affiliation wicri:level="2"><nlm:aff id="aff5">Department of Ophthalmology, Massachusetts Eye & Ear, Boston, Massachusetts, United States</nlm:aff>
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<wicri:regionArea>Department of Ophthalmology, Massachusetts Eye & Ear, Boston, Massachusetts</wicri:regionArea>
<placeName><region type="state">Massachusetts</region>
</placeName>
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<affiliation wicri:level="2"><nlm:aff id="aff12">Channing Division of Network Medicine, Brigham and Women's Hospital, Boston, Massachusetts, United States</nlm:aff>
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<author><name sortKey="Wiggs, Janey L" sort="Wiggs, Janey L" uniqKey="Wiggs J" first="Janey L." last="Wiggs">Janey L. Wiggs</name>
<affiliation wicri:level="2"><nlm:aff id="aff5">Department of Ophthalmology, Massachusetts Eye & Ear, Boston, Massachusetts, United States</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Ophthalmology, Massachusetts Eye & Ear, Boston, Massachusetts</wicri:regionArea>
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<author><name sortKey="Allingham, R Rand" sort="Allingham, R Rand" uniqKey="Allingham R" first="R. Rand" last="Allingham">R. Rand Allingham</name>
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<wicri:regionArea>Department of Ophthalmology, Duke University Medical Center, Durham, North Carolina</wicri:regionArea>
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</placeName>
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<author><name sortKey="Ashley Koch, Allison E" sort="Ashley Koch, Allison E" uniqKey="Ashley Koch A" first="Allison E." last="Ashley-Koch">Allison E. Ashley-Koch</name>
<affiliation wicri:level="2"><nlm:aff id="aff2">Department of Medicine, Duke University Medical Center, Durham, North Carolina, United States</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Medicine, Duke University Medical Center, Durham, North Carolina</wicri:regionArea>
<placeName><region type="state">Caroline du Nord</region>
</placeName>
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<author><name sortKey="Hauser, Michael A" sort="Hauser, Michael A" uniqKey="Hauser M" first="Michael A." last="Hauser">Michael A. Hauser</name>
<affiliation wicri:level="2"><nlm:aff id="aff2">Department of Medicine, Duke University Medical Center, Durham, North Carolina, United States</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Medicine, Duke University Medical Center, Durham, North Carolina</wicri:regionArea>
<placeName><region type="state">Caroline du Nord</region>
</placeName>
</affiliation>
<affiliation wicri:level="2"><nlm:aff id="aff22">Department of Ophthalmology, Duke University Medical Center, Durham, North Carolina, United States</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Ophthalmology, Duke University Medical Center, Durham, North Carolina</wicri:regionArea>
<placeName><region type="state">Caroline du Nord</region>
</placeName>
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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">DNA Copy Number Variants of Known Glaucoma Genes in Relation to Primary Open-Angle Glaucoma</title>
<author><name sortKey="Liu, Yutao" sort="Liu, Yutao" uniqKey="Liu Y" first="Yutao" last="Liu">Yutao Liu</name>
<affiliation wicri:level="2"><nlm:aff id="aff1">Department of Cellular Biology and Anatomy, Georgia Regents University, Augusta, Georgia, United States</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Cellular Biology and Anatomy, Georgia Regents University, Augusta, Georgia</wicri:regionArea>
<placeName><region type="state">Géorgie (États-Unis)</region>
</placeName>
</affiliation>
<affiliation wicri:level="2"><nlm:aff id="aff2">Department of Medicine, Duke University Medical Center, Durham, North Carolina, United States</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Medicine, Duke University Medical Center, Durham, North Carolina</wicri:regionArea>
<placeName><region type="state">Caroline du Nord</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Garrett, Melanie E" sort="Garrett, Melanie E" uniqKey="Garrett M" first="Melanie E." last="Garrett">Melanie E. Garrett</name>
<affiliation wicri:level="2"><nlm:aff id="aff2">Department of Medicine, Duke University Medical Center, Durham, North Carolina, United States</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Medicine, Duke University Medical Center, Durham, North Carolina</wicri:regionArea>
<placeName><region type="state">Caroline du Nord</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Yaspan, Brian L" sort="Yaspan, Brian L" uniqKey="Yaspan B" first="Brian L." last="Yaspan">Brian L. Yaspan</name>
<affiliation wicri:level="2"><nlm:aff id="aff3">Genentech, Inc., San Francisco, California, United States</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Genentech, Inc., San Francisco, California</wicri:regionArea>
<placeName><region type="state">Californie</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Bailey, Jessica Cooke" sort="Bailey, Jessica Cooke" uniqKey="Bailey J" first="Jessica Cooke" last="Bailey">Jessica Cooke Bailey</name>
<affiliation wicri:level="2"><nlm:aff id="aff4">Department of Epidemiology and Biostatistics, Case Western Reserve University, Cleveland, Ohio, United States</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Epidemiology and Biostatistics, Case Western Reserve University, Cleveland, Ohio</wicri:regionArea>
<placeName><region type="state">Ohio</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Loomis, Stephanie J" sort="Loomis, Stephanie J" uniqKey="Loomis S" first="Stephanie J." last="Loomis">Stephanie J. Loomis</name>
<affiliation wicri:level="2"><nlm:aff id="aff5">Department of Ophthalmology, Massachusetts Eye & Ear, Boston, Massachusetts, United States</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Ophthalmology, Massachusetts Eye & Ear, Boston, Massachusetts</wicri:regionArea>
<placeName><region type="state">Massachusetts</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Brilliant, Murray" sort="Brilliant, Murray" uniqKey="Brilliant M" first="Murray" last="Brilliant">Murray Brilliant</name>
<affiliation wicri:level="2"><nlm:aff id="aff6">Center for Human Genetics, Marshfield Clinic Research Foundation, Marshfield, Wisconsin, United States</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Center for Human Genetics, Marshfield Clinic Research Foundation, Marshfield, Wisconsin</wicri:regionArea>
<placeName><region type="state">Wisconsin</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Budenz, Donald L" sort="Budenz, Donald L" uniqKey="Budenz D" first="Donald L." last="Budenz">Donald L. Budenz</name>
<affiliation wicri:level="2"><nlm:aff id="aff7">Department of Ophthalmology, University of North Carolina, Chapel Hill, North Carolina, United States</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Ophthalmology, University of North Carolina, Chapel Hill, North Carolina</wicri:regionArea>
<placeName><region type="state">Caroline du Nord</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Christen, William G" sort="Christen, William G" uniqKey="Christen W" first="William G." last="Christen">William G. Christen</name>
<affiliation wicri:level="2"><nlm:aff id="aff8">Department of Medicine, Brigham and Women's Hospital, Boston, Massachusetts, United States</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Medicine, Brigham and Women's Hospital, Boston, Massachusetts</wicri:regionArea>
<placeName><region type="state">Massachusetts</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Fingert, John H" sort="Fingert, John H" uniqKey="Fingert J" first="John H." last="Fingert">John H. Fingert</name>
<affiliation wicri:level="4"><nlm:aff id="aff9">Department of Ophthalmology and Visual Sciences, Carver College of Medicine, University of Iowa, Iowa City, Iowa, United States</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Ophthalmology and Visual Sciences, Carver College of Medicine, University of Iowa, Iowa City, Iowa</wicri:regionArea>
<placeName><region type="state">Iowa</region>
<settlement type="city">Iowa City</settlement>
</placeName>
<orgName type="university">Université de l'Iowa</orgName>
</affiliation>
</author>
<author><name sortKey="Gaasterland, Douglas" sort="Gaasterland, Douglas" uniqKey="Gaasterland D" first="Douglas" last="Gaasterland">Douglas Gaasterland</name>
<affiliation wicri:level="2"><nlm:aff id="aff10">Eye Doctors of Washington, Chevy Chase, Maryland, United States</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Eye Doctors of Washington, Chevy Chase, Maryland</wicri:regionArea>
<placeName><region type="state">Maryland</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Gaasterland, Terry" sort="Gaasterland, Terry" uniqKey="Gaasterland T" first="Terry" last="Gaasterland">Terry Gaasterland</name>
<affiliation wicri:level="2"><nlm:aff id="aff11">Scripps Genome Center, University of California at San Diego, San Diego, California, United States</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Scripps Genome Center, University of California at San Diego, San Diego, California</wicri:regionArea>
<placeName><region type="state">Californie</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Kang, Jae H" sort="Kang, Jae H" uniqKey="Kang J" first="Jae H." last="Kang">Jae H. Kang</name>
<affiliation wicri:level="2"><nlm:aff id="aff12">Channing Division of Network Medicine, Brigham and Women's Hospital, Boston, Massachusetts, United States</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Channing Division of Network Medicine, Brigham and Women's Hospital, Boston, Massachusetts</wicri:regionArea>
<placeName><region type="state">Massachusetts</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Lee, Richard K" sort="Lee, Richard K" uniqKey="Lee R" first="Richard K." last="Lee">Richard K. Lee</name>
<affiliation wicri:level="2"><nlm:aff id="aff13">Bascom Palmer Eye Institute, University of Miami Miller School of Medicine, Miami, Florida, United States</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Bascom Palmer Eye Institute, University of Miami Miller School of Medicine, Miami, Florida</wicri:regionArea>
<placeName><region type="state">Floride</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Lichter, Paul" sort="Lichter, Paul" uniqKey="Lichter P" first="Paul" last="Lichter">Paul Lichter</name>
<affiliation wicri:level="2"><nlm:aff id="aff14">Department of Ophthalmology and Visual Sciences, University of Michigan, Ann Arbor, Michigan, United States</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Ophthalmology and Visual Sciences, University of Michigan, Ann Arbor, Michigan</wicri:regionArea>
<placeName><region type="state">Michigan</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Moroi, Sayoko E" sort="Moroi, Sayoko E" uniqKey="Moroi S" first="Sayoko E." last="Moroi">Sayoko E. Moroi</name>
<affiliation wicri:level="2"><nlm:aff id="aff14">Department of Ophthalmology and Visual Sciences, University of Michigan, Ann Arbor, Michigan, United States</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Ophthalmology and Visual Sciences, University of Michigan, Ann Arbor, Michigan</wicri:regionArea>
<placeName><region type="state">Michigan</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Realini, Anthony" sort="Realini, Anthony" uniqKey="Realini A" first="Anthony" last="Realini">Anthony Realini</name>
<affiliation wicri:level="2"><nlm:aff id="aff15">Department of Ophthalmology, West Virginia University Eye Institute, Morgantown, West Virginia, United States;</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Ophthalmology, West Virginia University Eye Institute, Morgantown, West Virginia</wicri:regionArea>
<placeName><region type="state">Virginie-Occidentale</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Richards, Julia E" sort="Richards, Julia E" uniqKey="Richards J" first="Julia E." last="Richards">Julia E. Richards</name>
<affiliation wicri:level="2"><nlm:aff id="aff14">Department of Ophthalmology and Visual Sciences, University of Michigan, Ann Arbor, Michigan, United States</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Ophthalmology and Visual Sciences, University of Michigan, Ann Arbor, Michigan</wicri:regionArea>
<placeName><region type="state">Michigan</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Schuman, Joel S" sort="Schuman, Joel S" uniqKey="Schuman J" first="Joel S." last="Schuman">Joel S. Schuman</name>
<affiliation wicri:level="4"><nlm:aff id="aff16">Department of Ophthalmology, UPMC Eye Center, University of Pittsburgh, Pittsburgh, Pennsylvania, United States</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Ophthalmology, UPMC Eye Center, University of Pittsburgh, Pittsburgh, Pennsylvania</wicri:regionArea>
<placeName><region type="state">Pennsylvanie</region>
<settlement type="city">Pittsburgh</settlement>
</placeName>
<orgName type="university">Université de Pittsburgh</orgName>
</affiliation>
</author>
<author><name sortKey="Scott, William K" sort="Scott, William K" uniqKey="Scott W" first="William K." last="Scott">William K. Scott</name>
<affiliation wicri:level="2"><nlm:aff id="aff17">Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, Florida, United States</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, Florida</wicri:regionArea>
<placeName><region type="state">Floride</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Singh, Kuldev" sort="Singh, Kuldev" uniqKey="Singh K" first="Kuldev" last="Singh">Kuldev Singh</name>
<affiliation wicri:level="2"><nlm:aff id="aff18">Department of Ophthalmology, Stanford University, Palo Alto, California, United States</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Ophthalmology, Stanford University, Palo Alto, California</wicri:regionArea>
<placeName><region type="state">Californie</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Sit, Arthur J" sort="Sit, Arthur J" uniqKey="Sit A" first="Arthur J." last="Sit">Arthur J. Sit</name>
<affiliation wicri:level="2"><nlm:aff id="aff19">Department of Ophthalmology, Mayo Clinic, Rochester, Minnesota, United States</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Ophthalmology, Mayo Clinic, Rochester, Minnesota</wicri:regionArea>
<placeName><region type="state">Minnesota</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Vollrath, Douglas" sort="Vollrath, Douglas" uniqKey="Vollrath D" first="Douglas" last="Vollrath">Douglas Vollrath</name>
<affiliation wicri:level="2"><nlm:aff id="aff18">Department of Ophthalmology, Stanford University, Palo Alto, California, United States</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Ophthalmology, Stanford University, Palo Alto, California</wicri:regionArea>
<placeName><region type="state">Californie</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Weinreb, Robert" sort="Weinreb, Robert" uniqKey="Weinreb R" first="Robert" last="Weinreb">Robert Weinreb</name>
<affiliation wicri:level="2"><nlm:aff id="aff20">Department of Ophthalmology and Hamilton Glaucoma Center, University of California, San Diego, California, United States</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Ophthalmology and Hamilton Glaucoma Center, University of California, San Diego, California</wicri:regionArea>
<placeName><region type="state">Californie</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Wollstein, Gadi" sort="Wollstein, Gadi" uniqKey="Wollstein G" first="Gadi" last="Wollstein">Gadi Wollstein</name>
<affiliation wicri:level="4"><nlm:aff id="aff16">Department of Ophthalmology, UPMC Eye Center, University of Pittsburgh, Pittsburgh, Pennsylvania, United States</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Ophthalmology, UPMC Eye Center, University of Pittsburgh, Pittsburgh, Pennsylvania</wicri:regionArea>
<placeName><region type="state">Pennsylvanie</region>
<settlement type="city">Pittsburgh</settlement>
</placeName>
<orgName type="university">Université de Pittsburgh</orgName>
</affiliation>
</author>
<author><name sortKey="Zack, Donald J" sort="Zack, Donald J" uniqKey="Zack D" first="Donald J." last="Zack">Donald J. Zack</name>
<affiliation wicri:level="2"><nlm:aff id="aff21">Wilmer Eye Institute, Johns Hopkins University Hospital, Baltimore, Maryland, United States</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Wilmer Eye Institute, Johns Hopkins University Hospital, Baltimore, Maryland</wicri:regionArea>
<placeName><region type="state">Maryland</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Zhang, Kang" sort="Zhang, Kang" uniqKey="Zhang K" first="Kang" last="Zhang">Kang Zhang</name>
<affiliation wicri:level="2"><nlm:aff id="aff20">Department of Ophthalmology and Hamilton Glaucoma Center, University of California, San Diego, California, United States</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Ophthalmology and Hamilton Glaucoma Center, University of California, San Diego, California</wicri:regionArea>
<placeName><region type="state">Californie</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Pericak Vance, Margaret A" sort="Pericak Vance, Margaret A" uniqKey="Pericak Vance M" first="Margaret A." last="Pericak-Vance">Margaret A. Pericak-Vance</name>
<affiliation wicri:level="2"><nlm:aff id="aff17">Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, Florida, United States</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, Florida</wicri:regionArea>
<placeName><region type="state">Floride</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Haines, Jonathan L" sort="Haines, Jonathan L" uniqKey="Haines J" first="Jonathan L." last="Haines">Jonathan L. Haines</name>
<affiliation wicri:level="2"><nlm:aff id="aff4">Department of Epidemiology and Biostatistics, Case Western Reserve University, Cleveland, Ohio, United States</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Epidemiology and Biostatistics, Case Western Reserve University, Cleveland, Ohio</wicri:regionArea>
<placeName><region type="state">Ohio</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Pasquale, Louis R" sort="Pasquale, Louis R" uniqKey="Pasquale L" first="Louis R." last="Pasquale">Louis R. Pasquale</name>
<affiliation wicri:level="2"><nlm:aff id="aff5">Department of Ophthalmology, Massachusetts Eye & Ear, Boston, Massachusetts, United States</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Ophthalmology, Massachusetts Eye & Ear, Boston, Massachusetts</wicri:regionArea>
<placeName><region type="state">Massachusetts</region>
</placeName>
</affiliation>
<affiliation wicri:level="2"><nlm:aff id="aff12">Channing Division of Network Medicine, Brigham and Women's Hospital, Boston, Massachusetts, United States</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Channing Division of Network Medicine, Brigham and Women's Hospital, Boston, Massachusetts</wicri:regionArea>
<placeName><region type="state">Massachusetts</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Wiggs, Janey L" sort="Wiggs, Janey L" uniqKey="Wiggs J" first="Janey L." last="Wiggs">Janey L. Wiggs</name>
<affiliation wicri:level="2"><nlm:aff id="aff5">Department of Ophthalmology, Massachusetts Eye & Ear, Boston, Massachusetts, United States</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Ophthalmology, Massachusetts Eye & Ear, Boston, Massachusetts</wicri:regionArea>
<placeName><region type="state">Massachusetts</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Allingham, R Rand" sort="Allingham, R Rand" uniqKey="Allingham R" first="R. Rand" last="Allingham">R. Rand Allingham</name>
<affiliation wicri:level="2"><nlm:aff id="aff22">Department of Ophthalmology, Duke University Medical Center, Durham, North Carolina, United States</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Ophthalmology, Duke University Medical Center, Durham, North Carolina</wicri:regionArea>
<placeName><region type="state">Caroline du Nord</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Ashley Koch, Allison E" sort="Ashley Koch, Allison E" uniqKey="Ashley Koch A" first="Allison E." last="Ashley-Koch">Allison E. Ashley-Koch</name>
<affiliation wicri:level="2"><nlm:aff id="aff2">Department of Medicine, Duke University Medical Center, Durham, North Carolina, United States</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Medicine, Duke University Medical Center, Durham, North Carolina</wicri:regionArea>
<placeName><region type="state">Caroline du Nord</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Hauser, Michael A" sort="Hauser, Michael A" uniqKey="Hauser M" first="Michael A." last="Hauser">Michael A. Hauser</name>
<affiliation wicri:level="2"><nlm:aff id="aff2">Department of Medicine, Duke University Medical Center, Durham, North Carolina, United States</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Medicine, Duke University Medical Center, Durham, North Carolina</wicri:regionArea>
<placeName><region type="state">Caroline du Nord</region>
</placeName>
</affiliation>
<affiliation wicri:level="2"><nlm:aff id="aff22">Department of Ophthalmology, Duke University Medical Center, Durham, North Carolina, United States</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Ophthalmology, Duke University Medical Center, Durham, North Carolina</wicri:regionArea>
<placeName><region type="state">Caroline du Nord</region>
</placeName>
</affiliation>
</author>
</analytic>
<series><title level="j">Investigative Ophthalmology & Visual Science</title>
<idno type="ISSN">0146-0404</idno>
<idno type="eISSN">1552-5783</idno>
<imprint><date when="2014">2014</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Aged</term>
<term>Aged, 80 and over</term>
<term>Case-Control Studies</term>
<term>DNA Copy Number Variations</term>
<term>Eye Proteins (genetics)</term>
<term>Female</term>
<term>Genetic Predisposition to Disease</term>
<term>Genotype</term>
<term>Glaucoma, Open-Angle (genetics)</term>
<term>Humans</term>
<term>Male</term>
<term>Middle Aged</term>
</keywords>
<keywords scheme="KwdFr" xml:lang="fr"><term>Adulte d'âge moyen</term>
<term>Femelle</term>
<term>Glaucome à angle ouvert (génétique)</term>
<term>Génotype</term>
<term>Humains</term>
<term>Mâle</term>
<term>Protéines de l'oeil (génétique)</term>
<term>Prédisposition génétique à une maladie</term>
<term>Sujet âgé</term>
<term>Sujet âgé de 80 ans ou plus</term>
<term>Variations de nombre de copies de segment d'ADN</term>
<term>Études cas-témoins</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Eye Proteins</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Glaucoma, Open-Angle</term>
</keywords>
<keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Glaucome à angle ouvert</term>
<term>Protéines de l'oeil</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Aged</term>
<term>Aged, 80 and over</term>
<term>Case-Control Studies</term>
<term>DNA Copy Number Variations</term>
<term>Female</term>
<term>Genetic Predisposition to Disease</term>
<term>Genotype</term>
<term>Humans</term>
<term>Male</term>
<term>Middle Aged</term>
</keywords>
<keywords scheme="MESH" xml:lang="fr"><term>Adulte d'âge moyen</term>
<term>Femelle</term>
<term>Génotype</term>
<term>Humains</term>
<term>Mâle</term>
<term>Prédisposition génétique à une maladie</term>
<term>Sujet âgé</term>
<term>Sujet âgé de 80 ans ou plus</term>
<term>Variations de nombre de copies de segment d'ADN</term>
<term>Études cas-témoins</term>
</keywords>
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<front><div type="abstract" xml:lang="en"><sec id="st1"><title>Purpose.</title>
<p>We examined the role of DNA copy number variants (CNVs) of known glaucoma genes in relation to primary open angle glaucoma (POAG).</p>
</sec>
<sec id="st2"><title>Methods.</title>
<p>Our study included DNA samples from two studies (NEIGHBOR and GLAUGEN). All the samples were genotyped with the Illumina Human660W_Quad_v1 BeadChip. After removing non–blood-derived and amplified DNA samples, we applied quality control steps based on the mean Log R Ratio and the mean B allele frequency. Subsequently, data from 3057 DNA samples (1599 cases and 1458 controls) were analyzed with PennCNV software. We defined CNVs as those ≥5 kilobases (kb) in size and interrogated by ≥5 consecutive probes. We further limited our investigation to CNVs in known POAG-related genes, including <italic>CDKN2B-AS1</italic>
, <italic>TMCO1</italic>
, <italic>SIX1/SIX6</italic>
, <italic>CAV1/CAV2</italic>
, the <italic>LRP12</italic>
-<italic>ZFPM2</italic>
 region, <italic>GAS7</italic>
, <italic>ATOH7</italic>
, <italic>FNDC3B</italic>
, <italic>CYP1B1</italic>
, <italic>MYOC</italic>
, <italic>OPTN</italic>
, <italic>WDR36</italic>
, <italic>SRBD1</italic>
, <italic>TBK1</italic>
, and <italic>GALC</italic>
.</p>
</sec>
<sec id="st3"><title>Results.</title>
<p>Genomic duplications of <italic>CDKN2B-AS1</italic>
 and <italic>TMCO1</italic>
 were each found in a single case. Two cases carried duplications in the <italic>GAS7</italic>
 region. Genomic deletions of <italic>SIX6</italic>
 and <italic>ATOH7</italic>
 were each identified in one case. One case carried a <italic>TBK1</italic>
 deletion and another case carried a <italic>TBK1</italic>
 duplication. No controls had duplications or deletions in these six genes. A single control had a duplication in the <italic>MYOC</italic>
 region. Deletions of <italic>GALC</italic>
 were observed in five cases and two controls.</p>
</sec>
<sec id="st4"><title>Conclusions.</title>
<p>The CNV analysis of a large set of cases and controls revealed the presence of rare CNVs in known POAG susceptibility genes. Our data suggest that these rare CNVs may contribute to POAG pathogenesis and merit functional evaluation.</p>
</sec>
</div>
</front>
</TEI>
<affiliations><list><country><li>États-Unis</li>
</country>
<region><li>Californie</li>
<li>Caroline du Nord</li>
<li>Floride</li>
<li>Géorgie (États-Unis)</li>
<li>Iowa</li>
<li>Maryland</li>
<li>Massachusetts</li>
<li>Michigan</li>
<li>Minnesota</li>
<li>Ohio</li>
<li>Pennsylvanie</li>
<li>Virginie-Occidentale</li>
<li>Wisconsin</li>
</region>
<settlement><li>Iowa City</li>
<li>Pittsburgh</li>
</settlement>
<orgName><li>Université de Pittsburgh</li>
<li>Université de l'Iowa</li>
</orgName>
</list>
<tree><country name="États-Unis"><region name="Géorgie (États-Unis)"><name sortKey="Liu, Yutao" sort="Liu, Yutao" uniqKey="Liu Y" first="Yutao" last="Liu">Yutao Liu</name>
</region>
<name sortKey="Allingham, R Rand" sort="Allingham, R Rand" uniqKey="Allingham R" first="R. Rand" last="Allingham">R. Rand Allingham</name>
<name sortKey="Ashley Koch, Allison E" sort="Ashley Koch, Allison E" uniqKey="Ashley Koch A" first="Allison E." last="Ashley-Koch">Allison E. Ashley-Koch</name>
<name sortKey="Bailey, Jessica Cooke" sort="Bailey, Jessica Cooke" uniqKey="Bailey J" first="Jessica Cooke" last="Bailey">Jessica Cooke Bailey</name>
<name sortKey="Brilliant, Murray" sort="Brilliant, Murray" uniqKey="Brilliant M" first="Murray" last="Brilliant">Murray Brilliant</name>
<name sortKey="Budenz, Donald L" sort="Budenz, Donald L" uniqKey="Budenz D" first="Donald L." last="Budenz">Donald L. Budenz</name>
<name sortKey="Christen, William G" sort="Christen, William G" uniqKey="Christen W" first="William G." last="Christen">William G. Christen</name>
<name sortKey="Fingert, John H" sort="Fingert, John H" uniqKey="Fingert J" first="John H." last="Fingert">John H. Fingert</name>
<name sortKey="Gaasterland, Douglas" sort="Gaasterland, Douglas" uniqKey="Gaasterland D" first="Douglas" last="Gaasterland">Douglas Gaasterland</name>
<name sortKey="Gaasterland, Terry" sort="Gaasterland, Terry" uniqKey="Gaasterland T" first="Terry" last="Gaasterland">Terry Gaasterland</name>
<name sortKey="Garrett, Melanie E" sort="Garrett, Melanie E" uniqKey="Garrett M" first="Melanie E." last="Garrett">Melanie E. Garrett</name>
<name sortKey="Haines, Jonathan L" sort="Haines, Jonathan L" uniqKey="Haines J" first="Jonathan L." last="Haines">Jonathan L. Haines</name>
<name sortKey="Hauser, Michael A" sort="Hauser, Michael A" uniqKey="Hauser M" first="Michael A." last="Hauser">Michael A. Hauser</name>
<name sortKey="Hauser, Michael A" sort="Hauser, Michael A" uniqKey="Hauser M" first="Michael A." last="Hauser">Michael A. Hauser</name>
<name sortKey="Kang, Jae H" sort="Kang, Jae H" uniqKey="Kang J" first="Jae H." last="Kang">Jae H. Kang</name>
<name sortKey="Lee, Richard K" sort="Lee, Richard K" uniqKey="Lee R" first="Richard K." last="Lee">Richard K. Lee</name>
<name sortKey="Lichter, Paul" sort="Lichter, Paul" uniqKey="Lichter P" first="Paul" last="Lichter">Paul Lichter</name>
<name sortKey="Liu, Yutao" sort="Liu, Yutao" uniqKey="Liu Y" first="Yutao" last="Liu">Yutao Liu</name>
<name sortKey="Loomis, Stephanie J" sort="Loomis, Stephanie J" uniqKey="Loomis S" first="Stephanie J." last="Loomis">Stephanie J. Loomis</name>
<name sortKey="Moroi, Sayoko E" sort="Moroi, Sayoko E" uniqKey="Moroi S" first="Sayoko E." last="Moroi">Sayoko E. Moroi</name>
<name sortKey="Pasquale, Louis R" sort="Pasquale, Louis R" uniqKey="Pasquale L" first="Louis R." last="Pasquale">Louis R. Pasquale</name>
<name sortKey="Pasquale, Louis R" sort="Pasquale, Louis R" uniqKey="Pasquale L" first="Louis R." last="Pasquale">Louis R. Pasquale</name>
<name sortKey="Pericak Vance, Margaret A" sort="Pericak Vance, Margaret A" uniqKey="Pericak Vance M" first="Margaret A." last="Pericak-Vance">Margaret A. Pericak-Vance</name>
<name sortKey="Realini, Anthony" sort="Realini, Anthony" uniqKey="Realini A" first="Anthony" last="Realini">Anthony Realini</name>
<name sortKey="Richards, Julia E" sort="Richards, Julia E" uniqKey="Richards J" first="Julia E." last="Richards">Julia E. Richards</name>
<name sortKey="Schuman, Joel S" sort="Schuman, Joel S" uniqKey="Schuman J" first="Joel S." last="Schuman">Joel S. Schuman</name>
<name sortKey="Scott, William K" sort="Scott, William K" uniqKey="Scott W" first="William K." last="Scott">William K. Scott</name>
<name sortKey="Singh, Kuldev" sort="Singh, Kuldev" uniqKey="Singh K" first="Kuldev" last="Singh">Kuldev Singh</name>
<name sortKey="Sit, Arthur J" sort="Sit, Arthur J" uniqKey="Sit A" first="Arthur J." last="Sit">Arthur J. Sit</name>
<name sortKey="Vollrath, Douglas" sort="Vollrath, Douglas" uniqKey="Vollrath D" first="Douglas" last="Vollrath">Douglas Vollrath</name>
<name sortKey="Weinreb, Robert" sort="Weinreb, Robert" uniqKey="Weinreb R" first="Robert" last="Weinreb">Robert Weinreb</name>
<name sortKey="Wiggs, Janey L" sort="Wiggs, Janey L" uniqKey="Wiggs J" first="Janey L." last="Wiggs">Janey L. Wiggs</name>
<name sortKey="Wollstein, Gadi" sort="Wollstein, Gadi" uniqKey="Wollstein G" first="Gadi" last="Wollstein">Gadi Wollstein</name>
<name sortKey="Yaspan, Brian L" sort="Yaspan, Brian L" uniqKey="Yaspan B" first="Brian L." last="Yaspan">Brian L. Yaspan</name>
<name sortKey="Zack, Donald J" sort="Zack, Donald J" uniqKey="Zack D" first="Donald J." last="Zack">Donald J. Zack</name>
<name sortKey="Zhang, Kang" sort="Zhang, Kang" uniqKey="Zhang K" first="Kang" last="Zhang">Kang Zhang</name>
</country>
</tree>
</affiliations>
</record>

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DNA Copy Number Variants of Known Glaucoma Genes in Relation to Primary Open-Angle Glaucoma

DNA Copy Number Variants of Known Glaucoma Genes in Relation to Primary Open-Angle Glaucoma

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